| Disease Name |
Disease (Merged) |
Source |
PMID |
Relationship Type |
Evidence Score |
| Ambiguous Genitalia |
Ambiguous Genitalia |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Ciliopathies |
Ciliopathies |
BEFREE |
27894351 |
|
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Ciliopathies |
Ciliopathy |
Pubtator |
27894351 |
Associate |
★★★★★★★☆☆☆ Found in Text Mining + Unknown/Other Associations |
| Colon Carcinoma |
Colon Carcinoma |
BEFREE |
31178140 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Encephalocele |
Encephalocele |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Hematologic Neoplasms |
Hematologic Neoplasms |
BEFREE |
19008459 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant neoplasm of breast |
Breast Cancer |
UNIPROT_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant Neoplasms |
Malignant Neoplasm |
BEFREE |
30658391 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Malignant tumor of colon |
Colonic Neoplasms |
BEFREE |
31178140 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meckel syndrome type 1 |
Meckel Syndrome |
GENOMICS_ENGLAND_DG |
27894351 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meckel syndrome type 1 |
Meckel-gruber syndrome |
Pubtator |
27894351, 30851085, 38073519 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meckel syndrome type 1 |
Meckel Syndrome |
BEFREE |
30851085, 31411728 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Meckel-Gruber syndrome |
Meckel-Gruber Syndrome |
BEFREE |
30851085 |
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Meckel-Gruber syndrome |
Meckel-Gruber Syndrome |
CLINVAR_DG |
|
|
★★★★★★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants) |
| Multiple Myeloma |
Multiple myeloma |
BEFREE |
12200383 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Multiple Myeloma |
Multiple myeloma |
Pubtator |
12200383 |
Associate |
★★★★★★☆☆☆☆ Found in Text Mining only |
| MUNGAN SYNDROME |
MUNGAN SYNDROME |
GENOMICS_ENGLAND_DG |
27894351 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Neoplasms |
Neoplasms |
BEFREE |
19008459 |
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Occipital Encephalocele |
Occipital Encephalocele |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polycystic Kidney Diseases |
Polycystic kidney disease |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Polydactyly |
Polydactyly |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |
| Syndactyly |
Syndactyly |
CLINVAR_DG |
|
|
★★★★★★☆☆☆☆ Found in Text Mining only |